Phenotype #0000285397

Individual ID 00392119
Associated disease -
Phenotype details best corrected visual acuity right/left eye: counting fingers/0.05, visual field: constricted <10deg both eyes, fundus: optic disc pallor, thin vessels, intraretinal pigment deposits., optical coherence tomography: widespread atrophy, pseudo hole OI
Diagnosis/Initial rod-cone dystrophy
Inheritance Unknown
Diagnosis/Definite RP-198
Age/Examination 58y (58 years)
Age/Diagnosis 18y
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2021-11-21 15:06:43 +01:00 (CET)
Date last edited N/A

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